Laboratory：Hachioji
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- Chromosome 22 (22q11 deletion) (CATCH22) conotruncal anomaly face syndrome velo-cardio-facial syndrome DiGeorge syndrome
Laboratory：Hachioji
○Chromosome 22 (22q11 deletion) (CATCH22) conotruncal anomaly face syndrome velo-cardio-facial syndrome DiGeorge syndrome
CODE：2552 4
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TEST NAME
SPECIMEN
REQUIREMENT
（ｍL） CONTAINER CAP COLOR STORE
TEMPERATURE
(STABILITY) TURNAROUND
TIME (DAY) METHODOLOGY REFERENCE RANGE
(UNIT) -
Chromosome 22 (22q11 deletion) (CATCH22) conotruncal anomaly face syndrome velo-cardio-facial syndrome DiGeorge syndrome
Blood (heparin added)
3
PH5
8-10 FISHFISH (Fluorescence in situ hybridization)
Fluorescence in situ hybridization
Hybridizes with the target DNA using a probe labeled with a fluorescent dye, and uses the fluorescent site that develops at a specific wavelength as a signal on the chromosome. How to detect under fluorescence microscope.
There is a direct method in which a probe labeled with a fluorescent dye is directly bound to the target DNA, and an indirect method in which the probe labeled with a labeling substance is bound to the target DNA, and then the labeled probe and fluorescent substance are bound to develop color. .
COMMENT
Avoid freezing. Acceptable days are Monday through Friday. Please make your request with the name of the relevant disease. This test does not detect genes directly involved in the disease, but rather determines the presence or absence of deletions in the responsible region. Please consult with us if the required sample volume is not met for neonatal blood collection.
About Submission of Chromosome Testing Submit the specimen on the same day after collection.
Subject to ethical guidelines (see below)
Collect blood in the container shown below, mix well, and preserve refrigerated.
Submit the specimen on the same day after collection.
CONTAINER
PH5 旧容器記号 G 12
ヘパリン入り (真空採血量5mL)
内容：ヘパリンNa 65IU
貯蔵方法：室温
有効期間：製造から2年
